ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.4293G>A (p.Ser1431=) (rs45487992)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000125686 SCV000169150 benign not specified 2014-01-23 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV001084215 SCV000285393 benign Tuberous sclerosis 2 2020-12-07 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000125686 SCV000305218 likely benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000042551 SCV000395652 benign Tuberous sclerosis syndrome 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Ambry Genetics RCV000562049 SCV000664685 likely benign Hereditary cancer-predisposing syndrome 2016-01-12 criteria provided, single submitter clinical testing Co-occurence with a mutation in another gene that clearly explains a proband's phenotype
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000125686 SCV000857581 likely benign not specified 2017-11-01 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000233893 SCV001146286 benign not provided 2018-11-29 criteria provided, single submitter clinical testing
Tuberous sclerosis database (TSC2) RCV000042551 SCV000066345 not provided Tuberous sclerosis syndrome no assertion provided curation

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